nsv4684339
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,820,598
- Description:GRCh37/hg19 17q12(chr17:34360168-36209228)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5172 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6681 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 2445 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4684339 | Submitted genomic | GRCh38 (hg38) | ALT_REF_LOCI_1 | NT_187614.1 | Chr17|NT_1 87614.1 | 267,696 | 2,088,293 |
| nsv4684339 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,360,168 | 36,209,228 |
| nsv4684339 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 31,384,281 | 33,283,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132422 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051914.6, VCV000058167.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132422 | Submitted genomic | NT_187614.1:g.(?_2 67696)_(2088293_?) dup | GRCh38 (hg38) | NT_187614.1 | Chr17|NT_1 87614.1 | 267,696 | 2,088,293 |
| nssv15132422 | Submitted genomic | NC_000017.10:g.(?_ 34360168)_(3620922 8_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,360,168 | 36,209,228 |
| nssv15132422 | Submitted genomic | NC_000017.9:g.(?_3 1384281)_(33283341 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 31,384,281 | 33,283,341 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132422 | GRCh37: NC_000017.10:g.(?_34360168)_(36209228_?)dup, GRCh38: NT_187614.1:g.(?_267696)_(2088293_?)dup, NCBI36: NC_000017.9:g.(?_31384281)_(33283341_?)dup | copy number gain | paternal | See cases | Pathogenic | ClinVar | RCV000051914.6, VCV000058167.2 | 3 |